Canonical Allele Identifier: CA368533929

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2657750
• ClinVar RCV Id: RCV003423671
• MyVariant Identifiers: chr7:g.100230694C>A (hg19) ; chr7:g.100633071C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633071C>A , CM000669.2:g.100633071C>A	GRCh38
NC_000007.13:g.100230694C>A , CM000669.1:g.100230694C>A	GRCh37
NC_000007.12:g.100068630C>A	NCBI36
NG_007989.1:g.13480G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.779G>T MANE Select	ENSP00000223051.3:p.Arg260Leu
ENST00000223051.7:c.779G>T	ENSP00000223051.3:p.Arg260Leu
ENST00000431692.5:c.779G>T	ENSP00000413905.1:p.Arg260Leu
ENST00000462090.5:n.20G>T
ENST00000462107.1:c.779G>T	ENSP00000420525.1:p.Arg260Leu
ENST00000465294.5:n.784G>T
ENST00000473374.5:n.229G>T
ENST00000473571.1:n.233G>T
ENST00000475011.1:n.308G>T
ENST00000476304.5:n.400G>T
ENST00000490084.5:c.34G>T
NM_001206855.1:c.266G>T	NP_001193784.1:p.Arg89Leu
NM_003227.3:c.779G>T	NP_003218.2:p.Arg260Leu
XM_005250553.3:c.779G>T	XP_005250610.1:p.Arg260Leu
XM_005250554.3:c.779G>T	XP_005250611.1:p.Arg260Leu
NM_001206855.2:c.266G>T	NP_001193784.1:p.Arg89Leu
XM_005250553.4:c.779G>T	XP_005250610.1:p.Arg260Leu
XM_017012573.1:c.779G>T	XP_016868062.1:p.Arg260Leu
NM_003227.4:c.779G>T MANE Select	NP_003218.2:p.Arg260Leu
NM_001206855.3:c.266G>T	NP_001193784.1:p.Arg89Leu